Fetal alcohol spectrum disorders

Last reviewed: 24 Apr 2022
Last updated: 27 Apr 2020

Summary

Definition

History and exam

Key diagnostic factors

  • presence of risk factors
  • gestation <37 weeks
  • low height, weight, head circumference
  • characteristic facial dysmorphology
  • presence of birth defects
  • developmental delay and behavioural problems
  • mental health problems
  • sibling with similar symptoms
More key diagnostic factors

Other diagnostic factors

  • hearing or vision impairment
  • poor feeding
  • irritability
Other diagnostic factors

Risk factors

  • maternal alcohol intake during pregnancy
  • current maternal alcohol intake
  • higher parity/gravidity
  • higher birth order of child
  • maternal ADH1B*1/ADH1B*3 or ADH1B*1/ADH1B*1 genotype
  • longer history of maternal alcohol consumption
  • increasing maternal age
  • decreased maternal weight, height, and head circumference
  • maternal tobacco use during pregnancy
  • low maternal socioeconomic status
  • maternal family history of alcohol consumption
  • maternal indigenous ethnicity
More risk factors

Diagnostic investigations

1st investigations to order

  • facial photographic assessment
More 1st investigations to order

Investigations to consider

  • antenatal ultrasonography of fetus
  • ECG
  • echocardiogram
  • EEG
  • MRI/CT head
  • renal ultrasonography
  • skeletal x-ray
  • screening blood tests
  • chromosome microarray
More investigations to consider

Emerging tests

  • functional MRI
  • magnetic resonance spectroscopy
  • 3-dimensional facial imaging

Treatment algorithm

ONGOING

all patients

Contributors

Authors

Elizabeth Elliott, MD, MPhil, MBBS, FRACP, FRCPCH, FRCP
Elizabeth Elliott

Professor of Paediatrics and Child Health

Faculty of Medicine and Health

University of Sydney

Consultant Paediatrician

The Children's Hospital at Westmead

Sydney

Director

Australian Paediatric Surveillance Unit

Westmead

Australia

Disclosures

EE is an author of a number of references cited in this monograph.

Acknowledgements

Dr Elizabeth Elliott would like to gratefully acknowledge Dr Elizabeth Peadon, a previous contributor to this monograph. EP is an author of a number of references cited in this monograph.

Peer reviewers

Albert E. Chudley, MD, FRCPC, FCCMG

Medical Director

Program in Genetics and Metabolism

Professor

Department of Pediatrics and Child Health

University of Manitoba

Winnipeg

Canada

Disclosures

AEC has been paid an honorarium and consulting fees for the development of screening tools for identifying individuals at risk for FASD in Canada. AEC is an author of a number of references cited in this monograph.

Carol Bower, MD

Clinical Professor

Senior Principal Research Fellow

Telethon Institute for Child Health Research

Centre for Child Health Research

The University of Western Australia

Perth

Australia

Disclosures

CB is an author of a number of references cited in this monograph, and sometimes collaborates with the authors.

Philip A. May, MD, PhD

Professor of Sociology

Professor of Family and Community Medicine

The University of New Mexico

Albuquerque

NM

Disclosures

PAM is an author of a number of references cited in this monograph.

  • Differentials

    • Fetal hydantoin syndrome
    • Fetal valproate syndrome
    • Toluene embryopathy
    More Differentials
  • Guidelines

    • Children and young people exposed prenatally to alcohol: a national clinical guideline
    • Report to the Australian Government Department of Health: Australian guide to the diagnosis of fetal alcohol spectrum disorder
    More Guidelines
  • Patient leaflets

    ADHD: what is it?

    Fetal alcohol spectrum disorders: what is it?

    More Patient leaflets
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